Canonical Allele Identifier: CA366253308

Gene: GTF2H5

Linked Data

• MyVariant Identifiers: chr6:g.158613047A>C (hg19) ; chr6:g.158192015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158192015A>C , CM000668.2:g.158192015A>C	GRCh38
NC_000006.11:g.158613047A>C , CM000668.1:g.158613047A>C	GRCh37
NC_000006.10:g.158533035A>C	NCBI36
NG_011758.1:g.28669A>C , LRG_469:g.28669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.133A>C
ENST00000689018.1:n.41-1195A>C
ENST00000689809.1:c.74A>C	ENSP00000510752.1:p.Glu25Ala
ENST00000691867.1:c.74A>C	ENSP00000510706.1:p.Glu25Ala
ENST00000607778.2:c.74A>C MANE Select	ENSP00000476100.1:p.Glu25Ala
ENST00000648328.1:c.*39A>C	ENSP00000497338.1:n.*39A>C
ENST00000607778.1:c.74A>C	ENSP00000476100.1:p.Glu25Ala
NM_207118.2:c.74A>C , LRG_469t1:c.74A>C	NP_997001.1:p.Glu25Ala
XM_017010862.1:c.104A>C	XP_016866351.1:p.Glu35Ala
NM_207118.3:c.74A>C MANE Select	NP_997001.1:p.Glu25Ala